Home
User Guide
What's in a MalaCard Search Guide Our Sources
Analysis Tools
GeneCards GeneAnalytics GeneAlaCart PathCards VarElect TGex
News and Views Disease Lists/Categories
About
About MalaCards Our Publications Weizmann Institute LifeMap Discovery® Terms of Use MalaCards Team
UMS
MCID: ULN003
MIFTS: 48

Ulnar-Mammary Syndrome (UMS)

Categories: Bone diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Rare diseases, Reproductive diseases, Smell/Taste diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
Sources

Aliases & Classifications for Ulnar-Mammary Syndrome

About this section

MalaCards integrated aliases for Ulnar-Mammary Syndrome:

Name: Ulnar-Mammary Syndrome 58 12 54 60 76 38 30 13 56 6 45 15 41 74
Schinzel Syndrome 58 12 77 54 60
Ums 58 54 60 76
Pallister Ulnar-Mammary Syndrome 58 12 60
Ulnar-Mammary Syndrome of Pallister 54

Characteristics:

Orphanet epidemiological data:

60
ulnar-mammary syndrome
Inheritance: Autosomal dominant; Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
ulnar-mammary syndrome:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases Metabolic diseases
Anatomical: Reproductive diseases Bone diseases Endocrine diseases Smell/Taste diseases
See all MalaCards categories (disease lists)
ICD10: 35
Orphanet: 60  
Rare gynaecological and obstetric diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Sources

Summaries for Ulnar-Mammary Syndrome

About this section
NIH Rare Diseases : 54 Ulnar-mammary syndrome (UMS) is a rare genetic syndrome, present from birth, that affects the development of several parts of the body. Features of UMS can be mild to severe and can vary significantly from person to person, even within the same family. The main features of UMS include upper limb defects (including abnormal or incomplete development of the fingers and forearm), underdevelopment of the mammary and apocrine glands (leading to absent breast development and the inability to produce breast milk), and various genital abnormalities. Other signs and symptoms may include hormonal deficiencies, delayed puberty (particularly in males), dental problems, short stature, and obesity. People with UMS may have distinct facial features, including a wide face tapering to a prominent chin, and a broad nose. UMS is caused by mutations in the TBX3 gene and inheritance is autosomal dominant. However, not all people who have or inherit a mutation will have features of UMS. This phenomenon is called incomplete penetrance. Treatment depends on the specific symptoms and severity in each person and may include surgery to improve the function or appearance of limbs, and hormone replacement therapy if hormonal deficiencies are present. The exact prevalence of UMS is not currently known, but less than 150 cases have been reported in the medical literature to date.

MalaCards based summary : Ulnar-Mammary Syndrome, also known as schinzel syndrome, is related to ritscher-schinzel syndrome 1 and ritscher-schinzel syndrome 2. An important gene associated with Ulnar-Mammary Syndrome is TBX3 (T-Box 3), and among its related pathways/superpathways is Heart Development. Affiliated tissues include breast, pituitary and uterus, and related phenotypes are abnormality of temperature regulation and aplasia/hypoplasia of the ulna

Disease Ontology : 12 A syndrome that has material basis in heterozygous mutation in the TBX3 gene. It is characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and, or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies.

OMIM : 58 The ulnar-mammary syndrome is an autosomal dominant disorder characterized by posterior limb deficiencies or duplications, apocrine/mammary gland hypoplasia and/or dysfunction, abnormal dentition, delayed puberty in males, and genital anomalies (Bamshad et al., 1996). (181450)

UniProtKB/Swiss-Prot : 76 Ulnar-mammary syndrome: Characterized by ulnar ray defects, obesity, hypogenitalism, delayed puberty, hypoplasia of nipples and apocrine glands.

Wikipedia : 77 Ulnar–mammary syndrome or Schinzel syndrome is a cutaneous condition characterized by nipple and breast... more...

Sources

Related Diseases for Ulnar-Mammary Syndrome

About this section

Diseases related to Ulnar-Mammary Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 22)
# Related Disease Score Top Affiliating Genes
1 ritscher-schinzel syndrome 1 12.6
2 ritscher-schinzel syndrome 2 12.5
3 ritscher-schinzel syndrome 12.3
4 limb-mammary syndrome 11.4
5 acrocallosal syndrome 11.3
6 murcs association 10.1 TBX3 TBX5
7 acheiropody 10.1 TBX3 TBX5
8 adult syndrome 10.0
9 ankyloglossia 10.0
10 hypogonadotropic hypogonadism 10.0
11 hypogonadism 10.0
12 pituitary hypoplasia 10.0
13 hypogonadotropism 10.0
14 mayer-rokitansky-kuster-hauser syndrome 10.0 TBX3 TBX5
15 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 9.9
16 talipes equinovarus 9.9
17 heart septal defect 9.9 TBX1 TBX5
18 holt-oram syndrome 9.8 TBX1 TBX3 TBX5
19 sinoatrial node disease 9.8 TBX18 TBX3
20 inguinal hernia 9.8 TBX1 TBX2 TBX3
21 digeorge syndrome 9.8 TBX1 TBX3 TBX5
22 atrioventricular septal defect 9.7 TBX1 TBX5

Graphical network of the top 20 diseases related to Ulnar-Mammary Syndrome:



Diseases related to Ulnar-Mammary Syndrome
Sources

Symptoms & Phenotypes for Ulnar-Mammary Syndrome

About this section

Human phenotypes related to Ulnar-Mammary Syndrome:

60 33 (show top 50) (show all 60)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of temperature regulation 60 33 hallmark (90%) Very frequent (99-80%) HP:0004370
2 aplasia/hypoplasia of the ulna 60 33 hallmark (90%) Very frequent (99-80%) HP:0006495
3 absent axillary hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0002221
4 abnormal fingernail morphology 33 hallmark (90%) HP:0001231
5 obesity 60 33 frequent (33%) Frequent (79-30%) HP:0001513
6 short stature 60 33 frequent (33%) Frequent (79-30%) HP:0004322
7 delayed puberty 60 33 frequent (33%) Frequent (79-30%) HP:0000823
8 cryptorchidism 60 33 frequent (33%) Frequent (79-30%) HP:0000028
9 decreased fertility 60 33 frequent (33%) Frequent (79-30%) HP:0000144
10 abnormality of the uterus 60 33 frequent (33%) Frequent (79-30%) HP:0000130
11 hypoplasia of penis 60 33 frequent (33%) Frequent (79-30%) HP:0008736
12 hypoplastic nipples 60 33 frequent (33%) Frequent (79-30%) HP:0002557
13 abnormality of the wrist 60 33 frequent (33%) Frequent (79-30%) HP:0003019
14 pectus carinatum 60 33 occasional (7.5%) Occasional (29-5%) HP:0000768
15 laryngomalacia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001601
16 arrhythmia 60 33 occasional (7.5%) Occasional (29-5%) HP:0011675
17 hypoplastic toenails 60 33 occasional (7.5%) Occasional (29-5%) HP:0001800
18 sprengel anomaly 60 33 occasional (7.5%) Occasional (29-5%) HP:0000912
19 hernia of the abdominal wall 60 33 occasional (7.5%) Occasional (29-5%) HP:0004299
20 abnormality of the metacarpal bones 60 33 occasional (7.5%) Occasional (29-5%) HP:0001163
21 anal atresia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002023
22 renal hypoplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000089
23 ventricular septal defect 60 33 occasional (7.5%) Occasional (29-5%) HP:0001629
24 hypodontia 60 33 occasional (7.5%) Occasional (29-5%) HP:0000668
25 pyloric stenosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0002021
26 short distal phalanx of finger 60 33 occasional (7.5%) Occasional (29-5%) HP:0009882
27 camptodactyly of finger 60 33 occasional (7.5%) Occasional (29-5%) HP:0100490
28 abnormality of the clavicle 60 33 occasional (7.5%) Occasional (29-5%) HP:0000889
29 postaxial hand polydactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0001162
30 ectopic anus 60 33 occasional (7.5%) Occasional (29-5%) HP:0004397
31 absent hand 60 33 occasional (7.5%) Occasional (29-5%) HP:0004050
32 aplasia of the pectoralis major muscle 60 33 occasional (7.5%) Occasional (29-5%) HP:0009751
33 breast aplasia 60 33 occasional (7.5%) Occasional (29-5%) HP:0100783
34 abnormality of the radius 60 33 occasional (7.5%) Occasional (29-5%) HP:0002818
35 abnormality of the humerus 60 33 occasional (7.5%) Occasional (29-5%) HP:0003063
36 inguinal hernia 33 HP:0000023
37 abnormality of the fingernails 60 Very frequent (99-80%)
38 inverted nipples 33 HP:0003186
39 abnormality of finger 60 Very frequent (99-80%)
40 sparse lateral eyebrow 33 HP:0005338
41 hypoplasia of the ulna 33 HP:0003022
42 micropenis 33 HP:0000054
43 hypoplasia of the radius 33 HP:0002984
44 shawl scrotum 33 HP:0000049
45 hypoplastic scapulae 33 HP:0000882
46 short clavicles 33 HP:0000894
47 anal stenosis 33 HP:0002025
48 absent radius 33 HP:0003974
49 sparse axillary hair 33 HP:0002215
50 breast hypoplasia 33 HP:0003187

Symptoms via clinical synopsis from OMIM:

58
Growth Weight:
obesity

Endocrine Features:
delayed puberty
anterior pituitary hypoplasia
ectopic posterior pituitary
thin pituitary stalk

Abdomen Gastrointestinal:
anal atresia
pyloric stenosis
anal stenosis

Head And Neck Teeth:
hypodontia
ectopic upper canines

Skin Nails Hair Hair:
sparse axillary hair

Respiratory Larynx:
subglottic stenosis

Skeletal Hands:
postaxial polydactyly
absent 3rd, 4th, and 5th ulnar rays

Growth Height:
delayed growth

Chest Ribs Sternum Clavicles And Scapulae:
hypoplastic scapula
hypoplastic clavicle

Skin Nails Hair Skin:
axillary apocrine gland hypoplasia

Abdomen External Features:
inguinal hernia

Chest Breasts:
inverted nipples
breast hypoplasia
nipple hypoplasia

Cardiovascular Heart:
ventricular septal defect
wolff-parkinson-white arrhythmia

Genitourinary External Genitalia Male:
shawl scrotum
small penis

Genitourinary Internal Genitalia Female:
imperforate hymen

Neurologic Central Nervous System:
anterior pituitary hypoplasia
ectopic posterior pituitary
thin pituitary stalk

Skeletal Limbs:
hypoplastic humerus
hypoplastic/absent/deformed ulna
hypoplastic/absent/deformed radius

Head And Neck Eyes:
scant lateral eyebrows

Skeletal Feet:
short fourth and fifth toes

Clinical features from OMIM:

181450

MGI Mouse Phenotypes related to Ulnar-Mammary Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 9.91 TBX1 TBX15 TBX18 TBX19 TBX2 TBX3
2 embryo MP:0005380 9.88 TBX1 TBX15 TBX18 TBX2 TBX3 TBX5
3 cardiovascular system MP:0005385 9.85 TBX1 TBX18 TBX2 TBX3 TBX5
4 craniofacial MP:0005382 9.83 TBX1 TBX15 TBX18 TBX2 TBX3
5 integument MP:0010771 9.72 TBX1 TBX15 TBX18 TBX19 TBX3
6 limbs/digits/tail MP:0005371 9.65 TBX1 TBX15 TBX2 TBX3 TBX5
7 mortality/aging MP:0010768 9.63 TBX1 TBX15 TBX18 TBX2 TBX3 TBX5
8 muscle MP:0005369 9.35 TBX1 TBX15 TBX18 TBX3 TBX5
9 skeleton MP:0005390 9.02 TBX1 TBX15 TBX18 TBX3 TBX5
Sources

Drugs & Therapeutics for Ulnar-Mammary Syndrome

About this section

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 The Role of TBX3 in Human ES Cell Differentiation Unknown status NCT00581152

Search NIH Clinical Center for Ulnar-Mammary Syndrome

Cochrane evidence based reviews: ulnar-mammary syndrome

Sources

Genetic Tests for Ulnar-Mammary Syndrome

About this section

Genetic tests related to Ulnar-Mammary Syndrome:

# Genetic test Affiliating Genes
1 Ulnar-Mammary Syndrome 30 TBX3
Sources

Anatomical Context for Ulnar-Mammary Syndrome

About this section

MalaCards organs/tissues related to Ulnar-Mammary Syndrome:

42
Breast, Pituitary, Uterus
Sources

Publications for Ulnar-Mammary Syndrome

About this section

Articles related to Ulnar-Mammary Syndrome:

(show all 43)
# Title Authors Year
1
A de novo TBX3 mutation presenting as dorsalization of the little fingers: A forme fruste phenotype of ulnar-mammary syndrome. ( 30654152 )
2019
2
Hypogonadotropic hypogonadism and pituitary hypoplasia as recurrent features in Ulnar-Mammary syndrome. ( 30550377 )
2018
3
Novel TBX3 mutation in a family of Cypriot ancestry with ulnar-mammary syndrome. ( 28145909 )
2017
4
Development of a subset of forelimb muscles and their attachment sites requires the ulnar-mammary syndrome gene Tbx3. ( 27491074 )
2016
5
A rare case of 3C disease: Ritscher-Schinzel syndrome presenting with recurrent talipes equinovarus. ( 25434475 )
2015
6
3-C Ritscher-Schinzel syndrome with spinal subarachnoid cyst. ( 25712599 )
2015
7
TBX3 regulates splicing in vivo: a novel molecular mechanism for Ulnar-mammary syndrome. ( 24675841 )
2014
8
Ulnar mammary syndrome. ( 24679913 )
2014
9
Ulnar-mammary syndrome: clinical presentation, genetic underpinnings, diagnosis, and treatment. ( 25328580 )
2014
10
Mouse TBX3 mutants suggest novel molecular mechanisms for Ulnar-mammary syndrome. ( 23844108 )
2013
11
Correspondence: Further studies on a kindred reported by Li 2009 as 'A new syndrome of ankyloglossia and ulnar ray defects in Newfoundland kindred'. From 'new syndrome' through EEC to ulnar mammary syndrome. ( 22391622 )
2012
12
A preterm infant with prolonged respiratory problems due to Ritscher-Schinzel syndrome. ( 23072186 )
2012
13
The ulnar-mammary syndrome gene, Tbx3, is a direct target of the retinoic acid signaling pathway, which regulates its expression during mouse limb development. ( 22535523 )
2012
14
The face of Ulnar Mammary syndrome? ( 21199695 )
2011
15
Ulnar Mammary syndrome and TBX3: expanding the phenotype. ( 19938096 )
2009
16
Increased nuchal translucency thickness: a potential indicator for Ritscher-Schinzel syndrome. ( 18957854 )
2008
17
TBX3, the gene mutated in ulnar-mammary syndrome, promotes growth of mammary epithelial cells via repression of p19ARF, independently of p53. ( 17265068 )
2007
18
Novel TBX3 mutation data in families with ulnar-mammary syndrome indicate a genotype-phenotype relationship: mutations that do not disrupt the T-domain are associated with less severe limb defects. ( 16530712 )
2006
19
Ulnar-mammary syndrome with dysmorphic facies and mental retardation caused by a novel 1.28 Mb deletion encompassing the TBX3 gene. ( 16896345 )
2006
20
Acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome: report of a child with phenotypic overlap with ulnar-mammary syndrome and a new mutation in TP63. ( 16114047 )
2005
21
Re: 3C (Ritscher-Schinzel) syndrome: the importance of ruling out a terminal 6p deletion. ( 16155425 )
2005
22
Congenital palmar polyonychia with postaxial limb defects may be the same as the ulnar-mammary syndrome. ( 16059946 )
2005
23
Tbx3, the ulnar-mammary syndrome gene, and Tbx2 interact in mammary gland development through a p19Arf/p53-independent pathway. ( 16222716 )
2005
24
Mammary gland, limb and yolk sac defects in mice lacking Tbx3, the gene mutated in human ulnar mammary syndrome. ( 12668638 )
2003
25
TBX-3, the gene mutated in Ulnar-Mammary Syndrome, is a negative regulator of p19ARF and inhibits senescence. ( 11748239 )
2002
26
Structure of the DNA-bound T-box domain of human TBX3, a transcription factor responsible for ulnar-mammary syndrome. ( 12005433 )
2002
27
Novel mutation of TBX3 in a Japanese family with ulnar-mammary syndrome: implication for impaired sex development. ( 12116211 )
2002
28
Haploinsufficiency of TBX3 causes ulnar-mammary syndrome in a large Turkish family. ( 12668170 )
2002
29
A dominant repression domain in Tbx3 mediates transcriptional repression and cell immortalization: relevance to mutations in Tbx3 that cause ulnar-mammary syndrome. ( 11689487 )
2001
30
The spectrum of mutations in TBX3: Genotype/Phenotype relationship in ulnar-mammary syndrome. ( 10330342 )
1999
31
Transcription repression by Xenopus ET and its human ortholog TBX3, a gene involved in ulnar-mammary syndrome. ( 10468588 )
1999
32
Mutations in human TBX3 alter limb, apocrine and genital development in ulnar-mammary syndrome. ( 9207801 )
1997
33
"Shifted" threshold may explain diversity of cardiovascular malformations in multiple congenital abnormalities syndromes: 3C (Ritscher-Schinzel) syndrome as an example. ( 8957516 )
1996
34
Clinical analysis of a large kindred with the Pallister ulnar-mammary syndrome. ( 8923944 )
1996
35
Evidence for Ritscher-Schinzel syndrome in Canadian Native Indians. ( 7604842 )
1995
36
A gene for ulnar-mammary syndrome maps to 12q23-q24.1. ( 8595424 )
1995
37
Another case of Ritscher-Schinzel-syndrome: craniocerebello-cardiac dysplasia (3C-syndrome) with associated bilateral colobomata. ( 8157023 )
1994
38
Possible relationship between ulnar-mammary syndrome and split hand with aplasia of the ulna syndrome. ( 1481852 )
1992
39
3C syndrome: third occurrence of cranio-cerebello-cardiac dysplasia (Ritscher-Schinzel syndrome). ( 2650935 )
1989
40
Ulnar-mammary syndrome. ( 3430557 )
1987
41
The ulnar-mammary syndrome: an autosomal dominant pleiotropic gene. ( 3621662 )
1987
42
The Schinzel syndrome in a mother and daughter. ( 6538465 )
1984
43
Studies of malformation syndromes of man XXXXIIB: mother and son affected with the ulnar-mammary syndrome type Pallister. ( 991870 )
1976
Sources

Variations for Ulnar-Mammary Syndrome

About this section

UniProtKB/Swiss-Prot genetic disease variations for Ulnar-Mammary Syndrome:

76
# Symbol AA change Variation ID SNP ID
1 TBX3 p.Leu143Pro VAR_009601
2 TBX3 p.Tyr149Ser VAR_009602

ClinVar genetic disease variations for Ulnar-Mammary Syndrome:

6 (show top 50) (show all 191)
# Gene Variation Type Significance SNP ID Assembly Location
1 TBX3 TBX3, 1-BP DEL, 227T deletion Pathogenic
2 TBX3 NM_016569.3(TBX3): c.877A> T (p.Lys293Ter) single nucleotide variant Pathogenic rs104894376 GRCh38 Chromosome 12, 114677644: 114677644
3 TBX3 TBX3, IVS2DS, G-C, +1 single nucleotide variant Pathogenic
4 TBX3 TBX3, 1-BP INS, 88A insertion Pathogenic
5 TBX3 NM_016569.3(TBX3): c.877A> T (p.Lys293Ter) single nucleotide variant Pathogenic rs104894376 GRCh37 Chromosome 12, 115115449: 115115449
6 TBX3 NM_016569.3(TBX3): c.1051C> T (p.Gln351Ter) single nucleotide variant Pathogenic rs397514484 GRCh37 Chromosome 12, 115114166: 115114166
7 TBX3 NM_016569.3(TBX3): c.1051C> T (p.Gln351Ter) single nucleotide variant Pathogenic rs397514484 GRCh38 Chromosome 12, 114676361: 114676361
8 TBX3 NM_005996.3(TBX3): c.1173G> C (p.Ala391=) single nucleotide variant Benign/Likely benign rs146589414 GRCh37 Chromosome 12, 115112507: 115112507
9 TBX3 NM_005996.3(TBX3): c.1173G> C (p.Ala391=) single nucleotide variant Benign/Likely benign rs146589414 GRCh38 Chromosome 12, 114674702: 114674702
10 TBX3 NM_016569.3(TBX3): c.171G> A (p.Pro57=) single nucleotide variant Benign/Likely benign rs201388921 GRCh37 Chromosome 12, 115120835: 115120835
11 TBX3 NM_016569.3(TBX3): c.171G> A (p.Pro57=) single nucleotide variant Benign/Likely benign rs201388921 GRCh38 Chromosome 12, 114683030: 114683030
12 TBX3 NM_005996.3(TBX3): c.1126T> A (p.Ser376Thr) single nucleotide variant Benign rs78115331 GRCh37 Chromosome 12, 115112554: 115112554
13 TBX3 NM_005996.3(TBX3): c.1126T> A (p.Ser376Thr) single nucleotide variant Benign rs78115331 GRCh38 Chromosome 12, 114674749: 114674749
14 TBX3 NM_005996.3(TBX3): c.1974C> T (p.Ala658=) single nucleotide variant Conflicting interpretations of pathogenicity rs370307666 GRCh37 Chromosome 12, 115109844: 115109844
15 TBX3 NM_005996.3(TBX3): c.1974C> T (p.Ala658=) single nucleotide variant Conflicting interpretations of pathogenicity rs370307666 GRCh38 Chromosome 12, 114672039: 114672039
16 TBX3 NM_005996.3(TBX3): c.*747G> A single nucleotide variant Benign rs3741695 GRCh38 Chromosome 12, 114671094: 114671094
17 TBX3 NM_005996.3(TBX3): c.*747G> A single nucleotide variant Benign rs3741695 GRCh37 Chromosome 12, 115108899: 115108899
18 TBX3 NM_005996.3(TBX3): c.1790C> T (p.Ala597Val) single nucleotide variant Uncertain significance rs200821102 GRCh38 Chromosome 12, 114672223: 114672223
19 TBX3 NM_005996.3(TBX3): c.1790C> T (p.Ala597Val) single nucleotide variant Uncertain significance rs200821102 GRCh37 Chromosome 12, 115110028: 115110028
20 TBX3 NM_005996.3(TBX3): c.*1539delT deletion Uncertain significance rs886049002 GRCh38 Chromosome 12, 114670302: 114670302
21 TBX3 NM_005996.3(TBX3): c.*1539delT deletion Uncertain significance rs886049002 GRCh37 Chromosome 12, 115108107: 115108107
22 TBX3 NM_005996.3(TBX3): c.*715C> G single nucleotide variant Uncertain significance rs886049005 GRCh37 Chromosome 12, 115108931: 115108931
23 TBX3 NM_005996.3(TBX3): c.*715C> G single nucleotide variant Uncertain significance rs886049005 GRCh38 Chromosome 12, 114671126: 114671126
24 TBX3 NM_005996.3(TBX3): c.*25T> A single nucleotide variant Likely benign rs141350926 GRCh37 Chromosome 12, 115109621: 115109621
25 TBX3 NM_005996.3(TBX3): c.*25T> A single nucleotide variant Likely benign rs141350926 GRCh38 Chromosome 12, 114671816: 114671816
26 TBX3 NM_005996.3(TBX3): c.1899C> T (p.Ser633=) single nucleotide variant Likely benign rs200569006 GRCh38 Chromosome 12, 114672114: 114672114
27 TBX3 NM_005996.3(TBX3): c.1899C> T (p.Ser633=) single nucleotide variant Likely benign rs200569006 GRCh37 Chromosome 12, 115109919: 115109919
28 TBX3 NM_005996.3(TBX3): c.1695C> A (p.His565Gln) single nucleotide variant Likely benign rs528110988 GRCh38 Chromosome 12, 114674180: 114674180
29 TBX3 NM_005996.3(TBX3): c.1695C> A (p.His565Gln) single nucleotide variant Likely benign rs528110988 GRCh37 Chromosome 12, 115111985: 115111985
30 TBX3 NM_005996.3(TBX3): c.1671C> G (p.Thr557=) single nucleotide variant Likely benign rs548288032 GRCh38 Chromosome 12, 114674204: 114674204
31 TBX3 NM_005996.3(TBX3): c.1671C> G (p.Thr557=) single nucleotide variant Likely benign rs548288032 GRCh37 Chromosome 12, 115112009: 115112009
32 TBX3 NM_005996.3(TBX3): c.1233G> A (p.Ala411=) single nucleotide variant Likely benign rs148511845 GRCh38 Chromosome 12, 114674642: 114674642
33 TBX3 NM_005996.3(TBX3): c.1233G> A (p.Ala411=) single nucleotide variant Likely benign rs148511845 GRCh37 Chromosome 12, 115112447: 115112447
34 TBX3 NM_005996.3(TBX3): c.777C> T (p.Ile259=) single nucleotide variant Likely benign rs34627348 GRCh38 Chromosome 12, 114679532: 114679532
35 TBX3 NM_005996.3(TBX3): c.777C> T (p.Ile259=) single nucleotide variant Likely benign rs34627348 GRCh37 Chromosome 12, 115117337: 115117337
36 TBX3 NM_005996.3(TBX3): c.700A> G (p.Ile234Val) single nucleotide variant Likely benign rs117465019 GRCh38 Chromosome 12, 114679609: 114679609
37 TBX3 NM_005996.3(TBX3): c.700A> G (p.Ile234Val) single nucleotide variant Likely benign rs117465019 GRCh37 Chromosome 12, 115117414: 115117414
38 TBX3 NM_005996.3(TBX3): c.619C> T (p.Leu207=) single nucleotide variant Likely benign rs35069811 GRCh38 Chromosome 12, 114680917: 114680917
39 TBX3 NM_005996.3(TBX3): c.619C> T (p.Leu207=) single nucleotide variant Likely benign rs35069811 GRCh37 Chromosome 12, 115118722: 115118722
40 TBX3 NM_005996.3(TBX3): c.61C> T (p.Leu21=) single nucleotide variant Benign/Likely benign rs142592809 GRCh37 Chromosome 12, 115120945: 115120945
41 TBX3 NM_005996.3(TBX3): c.61C> T (p.Leu21=) single nucleotide variant Benign/Likely benign rs142592809 GRCh38 Chromosome 12, 114683140: 114683140
42 TBX3 NM_005996.3(TBX3): c.-71A> G single nucleotide variant Uncertain significance rs886049012 GRCh37 Chromosome 12, 115121076: 115121076
43 TBX3 NM_005996.3(TBX3): c.-71A> G single nucleotide variant Uncertain significance rs886049012 GRCh38 Chromosome 12, 114683271: 114683271
44 TBX3 NM_005996.3(TBX3): c.-198T> C single nucleotide variant Benign rs12366395 GRCh37 Chromosome 12, 115121203: 115121203
45 TBX3 NM_005996.3(TBX3): c.-198T> C single nucleotide variant Benign rs12366395 GRCh38 Chromosome 12, 114683398: 114683398
46 TBX3 NM_005996.3(TBX3): c.-366G> T single nucleotide variant Likely benign rs527797282 GRCh37 Chromosome 12, 115121371: 115121371
47 TBX3 NM_005996.3(TBX3): c.-366G> T single nucleotide variant Likely benign rs527797282 GRCh38 Chromosome 12, 114683566: 114683566
48 TBX3 NM_005996.3(TBX3): c.-392A> G single nucleotide variant Uncertain significance rs886049018 GRCh37 Chromosome 12, 115121397: 115121397
49 TBX3 NM_005996.3(TBX3): c.-392A> G single nucleotide variant Uncertain significance rs886049018 GRCh38 Chromosome 12, 114683592: 114683592
50 TBX3 NM_005996.3(TBX3): c.-417T> G single nucleotide variant Benign rs36202980 GRCh37 Chromosome 12, 115121422: 115121422
Sources

Expression for Ulnar-Mammary Syndrome

About this section
Search GEO for disease gene expression data for Ulnar-Mammary Syndrome.
Sources

Pathways for Ulnar-Mammary Syndrome

About this section

Pathways related to Ulnar-Mammary Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Heart Development 1
10.46 TBX1 TBX2 TBX5
Sources

GO Terms for Ulnar-Mammary Syndrome

About this section

Cellular components related to Ulnar-Mammary Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.17 TBX1 TBX15 TBX18 TBX19 TBX2 TBX3

Biological processes related to Ulnar-Mammary Syndrome according to GeneCards Suite gene sharing:

(show all 23)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.79 TBX1 TBX3 TBX5
2 positive regulation of cell proliferation GO:0008284 9.78 TBX1 TBX2 TBX3
3 multicellular organism development GO:0007275 9.72 TBX1 TBX18 TBX2 TBX3 TBX5
4 regulation of transcription by RNA polymerase II GO:0006357 9.71 TBX1 TBX18 TBX19 TBX3
5 roof of mouth development GO:0060021 9.6 TBX2 TBX3
6 pattern specification process GO:0007389 9.59 TBX1 TBX5
7 heart looping GO:0001947 9.58 TBX2 TBX3
8 embryonic digit morphogenesis GO:0042733 9.58 TBX2 TBX3
9 blood vessel development GO:0001568 9.57 TBX1 TBX3
10 positive regulation of cardiac muscle cell proliferation GO:0060045 9.56 TBX2 TBX5
11 embryonic cranial skeleton morphogenesis GO:0048701 9.55 TBX1 TBX15
12 embryonic forelimb morphogenesis GO:0035115 9.54 TBX3 TBX5
13 cell aging GO:0007569 9.52 TBX2 TBX3
14 outflow tract septum morphogenesis GO:0003148 9.51 TBX1 TBX2
15 cardiac muscle cell differentiation GO:0055007 9.49 TBX3 TBX5
16 cellular senescence GO:0090398 9.48 TBX2 TBX3
17 embryonic heart tube development GO:0035050 9.46 TBX2 TBX3
18 aorta morphogenesis GO:0035909 9.43 TBX1 TBX2
19 outflow tract morphogenesis GO:0003151 9.43 TBX1 TBX2 TBX3
20 forelimb morphogenesis GO:0035136 9.37 TBX3 TBX5
21 regulation of transcription, DNA-templated GO:0006355 9.17 TBX1 TBX15 TBX18 TBX19 TBX2 TBX3
22 mammary placode formation GO:0060596 9.16 TBX2 TBX3
23 heart morphogenesis GO:0003007 9.13 TBX1 TBX2 TBX3

Molecular functions related to Ulnar-Mammary Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.7 TBX1 TBX15 TBX18 TBX19 TBX2 TBX3
2 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.65 TBX15 TBX19 TBX2 TBX3 TBX5
3 sequence-specific DNA binding GO:0043565 9.62 TBX1 TBX2 TBX3 TBX5
4 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.5 TBX1 TBX15 TBX18 TBX19 TBX2 TBX3
5 transcription regulatory region sequence-specific DNA binding GO:0000976 9.37 TBX15 TBX18
6 DNA-binding transcription factor activity GO:0003700 9.17 TBX1 TBX15 TBX18 TBX19 TBX2 TBX3
Sources

Sources for Ulnar-Mammary Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
Content
Loading form....